725166005: Autosomal recessive omodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3439991011 Autosomal recessive omodysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3439992016 Autosomal recessive omodysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3439993014 Micromelic dysplasia, dislocation of radius syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3439994015 Omodysplasia 1 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive omodysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive omodysplasia	Is a	Omodysplasia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive omodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive omodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive omodysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive omodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive omodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3439991011	Autosomal recessive omodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3439992016	Autosomal recessive omodysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3439993014	Micromelic dysplasia, dislocation of radius syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3439994015	Omodysplasia 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module